12 Compelling Reasons I’m Talking About CMT This September

Top Twelve Reasons I’m Talking About CMT during Awareness Month

 

12) Confused Faces-When I tell people my son has Charcot-Marie-Tooth disease, I get looks like this:

Let’s stop the nonsense. I’m looking for reactions of recognition, like Dr. House’s below:

11) Dentures? Besides having had too many cavities, crowns, and pulled teeth, there is absolutely nothing wrong with my choppers. Yohan has beautiful teeth and healthy gums, too.  Dr. Howard Henry Tooth discovered this progressive neuromuscular disease at just about the same time as the French neurologists,  Dr.  Charcot, and his disciple,  Pierre Marie. So now we are stuck with Charcot-Marie-Tooth or CMT.

10. Eponyms. Jean-Marie Charcot is known as the father of modern neurology. And, he made sure no one would ever forget his legacy. Why? He was generous enough to share his last name with a host of other diseases he unraveled:

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Here is the short list of the master’s eponyms:

 

Sounds a bit narcissistic, don’t you think?

9) But, It Could Be SO Much Worse! 

I stop my complaining when I remember that the name COULD have been definitely much worse.  Why? One of my good doctor friends, a most reliable source, explained that Dr. Nikolaus Friedreich, as in the neuromuscular disease Friedrich’s Ataxia,  also wanted credit for the discovery of CMT, but the message of his discovery did not reach the authorities in time….something to do with an unannounced closing of government offices. So the Grand Poo-Bahs did not receive the important Carrion Pigeon or telegraph messages. Bummer for Nikolaus and hurrah for people with CMT everywhere! We don’t have Charcot-Marie-Tooth Freiderich disease (CMTF), but rather just CMT.

Thank God for small miracles.

8. Let everyone know that CMT does not stand for:

Country Music Television

Childen’s Musical Theater

Certified Massage Therapist

7.  Pronunciation: Give others ways to remember the name, pronounce like:

\(ˌ)shär-ˌkō-mə-ˌrē-ˈtüth-\

or

or

6. . Shark’s Teeth Convention? Once, I wanted to book a large room for a CMTA conference. The short discussion went something like this: “Hi. I need to book a meeting room for the Charcot-Marie-Tooth Association.”. “Okay, let me see. What is the date of your Shark Tooth meeting?

Carcharias_taurus_teeth (1)

Enough said. Ugh.

5. Rent a Costume or Let Your Pets Do The Dirty Work!

If you feel awkward about starting the CMT discussion, you and your animals can dress up like a shark – it’s fun and you are bound to get s few questions! Or, just paint your horse with non-toxic paint. People will ask…..trust me.

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4. Braces – Tell people you wear braces and when they look at your mouth, lift up your pant leg and flash them with your one-of-a-kind ankle-foot orthoses (AFOs).

 

 

 

 

 

 

 

 

3. Genius!

Wow your friends with your knowledge of medical jargon. Use CMT-related words like:

peripheral neuropathy, autosomal dominant, hereditary motor and sensory neuropathy, dorsiflexion, plantar flexion, pes cavus, myelin, axons, exome sequencing, orthosis, etc……

They’ll be stunned by your brilliance.

2. Participate! The CMTA makes it fun to celebrate and talk about CMT during CMT awareness month.  We have an entire interactive site dedicated to CMT awareness: https://www.cmtausa.org/community-powered-awareness-month-2018/

Or just send around the How Much Do You Know About CMT Quiz? 

Click here to take the quiz: https://bestfoot4wardblog.com/2018/09/02/its-cmt-awareness-month-how-much-do-you-know-about-cmt/

Be the expert on questions they can’t answer. Teach a friend and make good use of your never-ending CMT knowledge!

 

1) Acceptance-Whatever you do, talk about your CMT. Share your experiences with people who might not know about CMT. Most people want to know and CMT Awareness Month provides a platform to share resources and stories in an effort to shed light on this progressive neuromuscular disease, its symptoms, its effects.   Knowledge is power. Go forth and tell someone!

 

CMT, Carrots and Cones- Rare Diseases to Care About

February 28 was Rare Disease Day!!

rare disease day

 

Whoop-Dee-Doo!

Is that what you are thinking?  Hold on. Before you get all judgmental on me, let me explain why I believe Rare Disease Day to be a noteworthy event.

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Rare Diseases- The Backstory

Passed by Congress in 1983, the Orphan Disease Act defined a rare disease as a condition that affects less than 200,000 people in the US. This piece of legislation provided incentives, like tax cuts, to encourage pharmaceutical companies to develop medications for rare or orphan diseases.

Here are some Rare Disease Statistics:

-There are over 7000 different types of rare diseases.

-25-30 million people in the United States are living with rare diseases. That’s 1 in 10 Americans.

-It is estimated that 350 million people worldwide suffer from rare diseases.

-80% of rare diseases are genetic in origin.

95% of rare diseases have not one single FDA approved drug treatment!!

My son, Yohan, has CMT or Charcot-Marie-Tooth disease. Though it is known as an inherited disease, Yohan’s rare disease is the result of a spontaneous genetic mutation.  I guess these things gotta start somewhere. There is currently no way to slow down the progression of CMT.

 

Over the years, Yohan has literally tripped and stumbled, learning to manage this diagnosis and its symptoms. Progressive in nature, CMT gets worse over time. So just when you think you’ve reached status quo, WHAM, something else goes wrong. It’s the nature of the beast – the stuff that life is made of.

 

 

So, having CMT is bad enough, but then life gets even more complex when:

-You trip and break your kneecap.

 

 

 

 

 

-Your tremor is so apparent that a friend tells you that maybe cold turkey is not the way to go.

– Your fingers go rogue, making it impossible to grasp your cell phone before it falls into the port-a-potty. To make matters worse, you panic and attempt to retrieve it. Ewwwwwwww! But, it no longer works. Shit happens!

 

 

 

 

 

 

 

-You accidentally hit “send” on that that email no one was supposed to see. Monday morning is going to be a bitch.

 

 

 

 

 

 

 

You are suddenly diagnosed with a second rare and progressive disease.

Yes. Really.

No one ever made a rule stating that one rare disease per person is the maximum you can have. Some lucky people get none, and others get 2 or even more.

This past summer (2017) Yohan was diagnosed with a second rare disease that has nothing to do with CMT. It’s called Keratoconus (Carrot-A Cone-Us), which also has nothing to do with carrots and a lot to do with cones.

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With Keratoconus, the clear, dome-shaped tissue that covers the eye (cornea) thins and progressively bulges outward into a cone shape. It is also progressive in nature.

THANKFULLY, there is a treatment to slow down the progression. It’s called Corneal Collagen Cross-Linking (CXL) whereby Riboflavin or Vitamin B2 is used to strengthen the cornea. Unfortunately, this procedure is not FDA approved and still in the investigational trial phase. Non-FDA approved means that insurance will not cover the procedure, so I guess we’ll be paying out of pocket.

Rare diseases are expensive.

The shock of the diagnosis is fading, and we are all coming to terms with the news. Compared to foot surgery, this “should” be a breeze. But, I have trained myself never to use the word “should” because it sets unrealistic expectations, ends up undermining me and adds weight to my already present feelings of anxiety, stress, and lack of control in the world.

 

 

 

 

 

 

My first reaction to unpleasant or distressing news is to stick my head in the sand, even if I might suffocate. Instead of facing the facts head-on, I hide out for a while and do a lot of self-talking before I can come up for air and move forward. And I’m not even the one who needs the eye surgery!

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Where I Hang Out Most Days

How’s Yohan taking this? Yohan lives in the moment, in the now. And he is resilient. He doesn’t dwell on what might happen at some point in the future. He weighs the pros, the cons, seeks out good counsel and forges ahead. He must have got that quality from his dad as he sure did not learn it from me. On the contrary, I am learning from him….again. Funny how that happens.

Deep inside I know that whatever the future holds, we’ll all be able to handle the outcome. We always do.

But I first better get the sand out of my eyes or I might be undergoing a similar eye procedure!